A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667742



Internal ID9587161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:111125617..111128520hg38UCSC Ensembl
chr2:111883194..111886097hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg382904
hg192904
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6331341, essv5451931, essv5407465, essv6123330, essv6074962, essv6439341, essv6133341, essv5511394, essv6555626, essv6239957, essv5413544, essv6534606, essv5739666, essv6502023, essv5673246, essv6125577, essv5847573, essv5854374, essv6295863, essv6336775, essv6447517, essv6243712, essv6447331, essv6172598, essv6211874, essv5613269, essv5796935, essv6455624, essv6382424
SamplesNA18621, NA18530, HG00705, NA18612, NA19003, NA18545, NA18557, HG00479, NA18632, HG00543, NA18566, NA18576, NA18622, NA18617, NA18539, NA18633, HG00559, NA18942, NA18613, NA18619, HG00590, NA18599, HG00580, HG00530, NA18571, NA18610, NA18549, HG00626, HG00684
Known GenesBCL2L11
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667742
Frequency
Sample Size1151
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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